Saints, Martyrs, and the gift of ALD

This is not a feel-good post.

I’m tired of fear and pity parties. I mean, don’t get me wrong – we’re all entitled to having a pity party sometimes – but after a while, our friends need to grab us by the shoulders, tell us to get over ourselves, and go send us out to help someone who has it worse off. Maybe to go help a LOT of people who are worse off until we get it through our heads for the time being that the present moment is actually just fine and our lives are not so especially disastrous.

I am talking, of course, about ALD.  What else?

I’ve said it before and I’ll say it again: ALD is frightening. Sometimes, it’s like you have arachnophobia and are forced to live in a tarantula house at the zoo. But, then you learn that the spiders really aren’t so bad, they don’t have it out for you (except for that one little bugger with the orange stripes. He’s a douchebag) , and they’re just doing whatever it is that spiders do as part of their life cycle. You’re just there. They don’t really have it out for you personally (just watch out for the orange jerk. He hates you and he’s poisonous). Of course, then one of them lands on you and you freak out for a while. But then you remember that it’s all going to be okay and at least it’s not snakes. Or starving tigers.

Living with ALD hanging over your head is exactly like that. 

Or at least it should be. 

Here’s the tricky part of living with a disease like ALD and AMN: it’s really, really easy to sacrifice yourself on its altar and become a martyr to it.  It’s expected. Neigh – it is applauded by society at large and parts of the disease community itself.  Society likes to memorialize us before our due and the community likes to get in pissing contests about how bad we’ve all got it. This is because in both cases, it makes our egos individually feel a lot better about whatever is going on in our lives. 

 The Buddha is credited with saying “have compassion for all beings, rich and poor alike. Some suffer too much, others too little.” I’ve always thought that the word order of that was an interesting choice because it eliminates the idea that it’s necessarily the well-off suffering too little. Along these same lines, there is a poem that circulated the internet memes to the tune of “I wish you enough” where the speaker wishes one enough rain to appreciate the sun and enough suffering to appreciate small joys. I particularly liked that one. Thomas Merton warns us not to try to avoid suffering because the harder we try, the more small and insignificant things begin to torture us. Suffering in life is important – it is what drives and shapes our journey. It’s what makes us who we are depending on how we choose to respond to it. Whether we stay attached to it and feed ourselves a story about how bad we’ve got it OR use it to be grateful for everything we DO have and be in the present moment is the perpetual choice.  And it’s a damned hard choice sometimes. But here is the cheat code for the video game of life: it’s ALL suffering. Your response to it is what decides whether or how long you actually suffer.

And frankly, I’m tired of hearing how bad we families with ALD have got it. I’m tired of hearing that we’re all facing one terrible fate and that fate is determined by our genes. So, I left my support group after almost two years. It was very helpful at times – I wouldn’t have gotten through the earlier days without them – but at others it was shackles around my ankles because I’m tired.

I’m tired of hearing about the “beast” our family fights every day as if it makes us special. It’s tough. But we’re not special and we’re not saints. Our prospects as parents are no worse than anyone else’s and our suffering is no greater than what’s expected of every human being on the planet. It’s been almost two years and Cutler and I have come to terms what living with ALD means. We’ve come to terms with the knowledge that there is a chance that Gabe could die because of his condition. But there is a greater chance at this point that he – and you or I – will die of heart disease. 25% of Americans die of heart disease versus 8% of males with the ALD gene who get cerebral form after childhood. The risk of cerebral will increase to 20% if he gets a formal diagnosis of AMN one day, but that’s still less likely than heart disease and cancer (we ALL have a nearly 25% chance of dying of cancer in America). Not all boys have this statistical chance, someone - 35% - will be that 35% with CCALD, but the fact that most boys DO have a better chance should give us ALL hope.

When a parent gets the diagnosis of ALD, sometimes it’s too late for treatments to be of much help. That’s because we don’t have New Born Screening in most states and children and their families are only diagnosed with they start to exhibit serious symptoms.  About 1/3 (up to 35%) of all males who have the ALD gene will get the worst form – childhood cerebral. Another 8% (20% of 40%) will go on to develop AMN that becomes adult cerebral. But the majority – the remaining 67% - will survive with either AMN of some degree, Addison-only, or no symptoms. The data on the percent of the population who are totally asymptomatic is low but inconclusive because until we get standard NBS, we will continue to identify patient populations based on the exhibition of symptoms.  The fact of the numbers does not seem to be one that is embraced outright by the ALD community because most people involved in the community are the 17% of carriers whose children developed the CCALD form. The statistic that their children are in the minority is not helpful for them when they are in pain. They don’t want to hear that most of us will be okay because they are not ok. (Where did I get 17%? A carrier has a 50/50 chance of having a child with the gene and a 35% chance of the 50% who inherit the gene getting CCALD. That’s 17% of the carrier population who will have a child with CCALD). That 17% percent is a very vocal minority and that’s GOOD because it’s them who are leading the charge for cures and them who really need it. But it skews the view of ALD for everyone else.  THAT is the trouble with support groups.  People who survive ALD and are doing fine generally don’t need support groups, so new terrified parents join seeking answers and are confronted daily by the experience of 17% of carriers and 35% of boys as if this outcome is the inevitability. It’s needlessly terrifying when what we should be doing is reassuring frightened people that ALD is not a death sentence. Not convincing them by the war stories of the minority that it is.

But as I said: I’m tired.  I’m tired of being scared and scaring people who are already frightened. I’m tired of bereaved women accusing carriers who decide to have their own children of child abuse by daring to have babies who have an equal potential to live with ALD as they do to have a baby who eventually dies of either cancer or heart disease. And yet don’t see the irony amid their accusations of child abuse for giving birth of their simultaneously pushing forms of abortion for mutants as compassionate (frankly, as one of the offending mutants, I’ll take living with nerve pain, etc  to the alternative, but that’s just me.) I’m tired of being made to feel like I should be ashamed of having this mutation and that it’s irresponsible for people like my son and I to exist because of community members projecting their own fear and guilt. I’m ready to just join the “normal” population again. Almost half of them will die of either cancer or heart disease. 10.4% will die of accidental death before they are adults. 100% of them and us are suffering. 100% will die at some point and most of the non-mutants don’t spend all their time brooding on this inevitability or convincing everyone else that their mortality is a burden. (except the goth kids, but we let them because they make funny movies with gallows humor).

Here is what I have learned from working in healthcare: being with the terminally ill and dying is – absolutely, without question – a privilege. We’re going to die. ALL of us of SOMETHING. If we’re LUCKY, we get to see it coming, come to terms with it, and say goodbye to the people we love. 10.4% of children and teens die of sudden, accidental deaths. Their parents don’t get to plan and say goodbye. I’m not saying it’s not completely horrible either way, but take your blessings where they fall.  At least we families of ALD are given the very tangible gift of knowing that our time could be limited and to make the best of it. We have an albatross hanging around our necks and it’s a gift. It tells us that life is PRECIOUS. We have been given the opportunity that parents who loose their children suddenly don't have.  Children with ALD and any other chronic or terminal illness are not sentenced to a life of suffering any more than each one of us are. We ALL suffer. That is what life is about – how we deal with life itself and all of its beautiful tragedy. Whether that is ALD, heart disease, cancer, loss of income, or any of the myriad other sufferings that humanity faces. It is not irresponsible to allow people like my son and I to live, it is not shameful that we have a genetic mutation, our genes are not our fate, and it is a privilege, not a burden, to parent a child with ALD because they tell us exactly how beautiful, precious, and precarious life is.

I’ll be afraid the next time Gabe gets an MRI. And then at some point I’ll shake off the spiders and calm down because at least they are not starving tigers. I know I’ll be afraid every time something changes, but I’m not afraid now and I’m tired of living under the proclamation from other parents in the community that I should live in constant fear and shame. This is the antithesis to my philosophy of life and I refuse to be a martyr. To quote that beautiful story The Fault In our Stars, ‘some infinities are bigger than others .’ There is no separation between me, the mutant, and you the non-mutant:  neither of us know if our infinity is contained in a second or an hour. The difference is that I just might be lucky enough to get to count the seconds. ALD gave me that. 

Wishes, Flying, and Meeting Mortality

2014 has already been a year filled with promise, challenge, and hope. Hope. I think that must be my theme word. As of May, Cutler is once again a cancer surviving champion! After a year of chemotherapy, his MRIs are clear and he's beaten brain cancer for an epic third time. Our Gabriel is still a story of hope and promise. He has made it to 11 years old with Addison-only type. His MRIs are clear and stable. Both Dr. Raymond, scientific royalty in the world of ALD, and his BMT care team believe that Gabe is more likely, at this point and age, to develop AMN (a more mild and tamable phenotype of ALD) in his 20s or 30s than he is to develop cerebral forms. I've been focusing so much on learning everything I possibly can about cerebral ALD that my knowledge of AMN has been, admittedly, rudimentary. I have some very good reasons to become an AMN expert now, but I'll save that for the next blog post which will be all about Adrenomyeloneuropathy. Today I want to talk about Gabe's Make A Wish trip: the excitement, beauty, and the surprising aftermath. 

I can not say enough about how perfect the Make-A-Wish trip was or about how amazing and kind each and every person - from the MAW staff and volunteers, especially Stephanie, Michelle, and Tobi, to Maggiano's Little Italy restaurant staff and theme park and resort staff members. All the way around, it was the experience of a lifetime and everyone involved worked hard to make it wonderful. Gabe was lucky enough to be treated to a Wish Enhancement Dinner from Maggiano's at Southpoint. Check out these fantastic photos on Make- A Wish- Eastern NC's Facebook page!  

When we were invited to the dinner, we expected something small – just a quiet dinner with my in-laws, our Wish granting volunteers, and maybe a Wish Coordinator to go over the details of our itinerary. If I’d known what was in store for us, I would have dressed a little more nicely! What they did for Gabe was beautiful.  A dining room decorated in a safari theme was set aside for our party and Maggiano’s staff volunteered their time to serve us the most delicious three course Italian dinner. The hostess, LeeAnn, looked adorable dressed as a safari guide and Gabe had an almond safari Mickey Mouse cake that tasted every big as good as it looked. I was moved to tears several times through the evening and everyone had a lot of fun. Then, they sent us away with leftovers! There was enough there that we froze them and made really yummy dinners for a week!

For a few days before the Make-A-Wish dinner, Gabe had begun complaining of stomach pains and feeling unwell. He’d run a low-grade fever at school that had responded to acetaminophen and stress dosing his hydrocortisone. We thought at first that the stomach pain might be attributed to digestive issues. During the dinner, though, he would have to take breaks and go stand outside the room because his stomach was hurting and he didn’t feel very good. We encouraged him to slow down on the cheese but nothing could deter him from scarfing those mozzarella sticks that he loved like they were going out of style! By the end of the dinner, he was feeling rough (all that cheese, I wondered) and the next day he started to run a low-grade fever again. When his symptoms responded to stress dosing, I decided that it was time to call the endocrinologist about my concern that the stomach pain and spotty fevers were the beginning of an Adrenal Crisis.

His Endo agreed. Gabe has grown a good bit over the last year and he looks healthier than ever, but his daily hydrocortisone dose has been the same for a long time. The endocrinologist increased his dose from 5mg three times a day to 10mg in the morning, 5 in the afternoon, and 5 at night. She is keeping the fludrocortisone at 0.5mg once a day for now. That did it! His symptoms resolved and Gabe was back to feeling good. 

Gabe sits on dad's shoulder to see the planes

Gabe is excited about the flight

As we counted down the days to Gabe’s Make-A-Wish trip, I couldn’t tell what he was most excited about: flying in an airplane, staying at The Animal Kingdom Lodge, going to Disney, or riding the big rollercoasters at Sea World and Universal. As we waited at RDU for our plane to board, Gabe watched the planes taking off and landing. 

Gabe and Cai at RDU airport

Despite how excited Gabe was about flying, he found it more scary than he expected. He sat with his daddy on the flight to Orlando and with me on the way home, but both there and back he got airsick and asked us to close the window blind so that he wouldn’t feel nauseous and nervous.  Our Southwest staff were very nice. They gave the kids first flight certificates and let them take turns sitting in the pilot and co-pilot seats. 

When we landed, we saw someone holding a sign and thought “Oh, that’s nice. They’re waiting for someone…” Then I read the sign! It said “Kornegay Family!” They were waiting for US to guide us through the airport to baggage claim and to our car rental! I’ve gotta say, that was a special touch, Make-A-Wish!

The view from the Kilimanjaro Club

The photos on-line of The Animal Kingdom Lodge do not do it justice. It was GORGEOUS. The attention to detail was perfect (light shades that were really drums, carvings and ornaments to be found in every nook, thatching and architecture that made you feel like you were in a fairy tale version of Afica), the staff was incredibly kind, and there were African Artifacts everywhere. And the animals! Our room had a balcony that was right over the “savanna” and the giraffes could have walked up and licked our faces if they’d wanted to.  I’ve never had the privilege of staying in a luxury resort before, but anywhere else of this caliber I would imagine that I would feel like the children needed to be subdued, stay at my side, and don’t touch the nice things on display... You know the type of best show behavior I’m talking about. But this was Disney! It was designed for children and the child-at-heart! Not only did I feel totally comfortable letting the kids explore, but the sight of all of the children running around being children and enjoying all of the activities that the Lodge offered was incredibly joyous. 

Our first day in Orlando, we had nothing scheduled besides exploring the resort, so we planned to head out in the evening to Downtown Disney and the giant three-story arcade there. If there is anything Gabe might love more than food and sports, it’s video games (though it’d be a tough call between soccer and the X-box). We were on our way out when the kids decided to go up to the fifth floor and walk across the suspended bridge over the lobby. From there, they thought that they could see a cave up on the top level, the 6^th floor.  They came down to get Cutler and I and up we went to check out this “cave” together. We had to scan our magic bands to get to the 6^th floor and when we stepped out of the elevator, we were greeted by a polite concierge desk who told us that many people think they see a cave but that this floor is the restricted club level. As we made our apologies, one of them asked about the celebration buttons we’d been given at check in. We explained that we were celebrating Gabe’s Make-A-Wish trip: his wish had been to stay at Animal Kingdom Lodge and he gets to visit the parks as well.

Gabe and Sam, our Disney Genie

Sam, the club level concierge, seemed surprised that his wish had been, specifically, Animal Kingdom Lodge. Most of the time, kids wish to go to Disney and they stay at this really neat place for Make-A-Wish kids called the “Give Kids the World” village. But, Gabe had wanted to feel like he was going on safari in Africa, so his wish had been to stay at Lodge. After a bit of chatting Sam asked us to stay there at the desk and disappeared. When he came back a little while later, he had a very special gift for Gabe: he’d gotten permission to give our family club level access for the week! We had a healthy breakfast every morning (their oatmeal with blueberries and jungle juice was divine), snacks (oh my, that coconut lemon pudding!), tea time, cordials… But best of all, Sam became Gabe’s special friend for the week. They fought light saber battles right there in the lobby and club lounge and Gabe, for all his shyness with new people, really looked forward to seeing him every day.  I hope that Sam got some recognition from Disney for what he did for us. He added the extra dose of magic to our trip that made it truly unbelievable.

Cai builds a fort in the Wish Lounge at Magic Kingdom

Gabe had some trouble dealing with the strenuous activity and heat visiting the parks every day, so we learned a new way to visit thanks to some of the experienced parents in our ALD support group. (What I would do without these people, I don’t know. I’ve never met most of them in person, but their support and advice and stories have made ALL the difference in how we have been able to handle ALD).  The first full day of park visiting we went to Magic Kingdom and Gabe got tired, over-heated, and felt faint about 2 hours in. We took him to the Wish Lounge to cool off and recharge and play with another wish family and their two children. Our teenaged daughter, Cai, is great with little children and she built a fort for the kids out of cushions.  When he was feeling better, we went back to the resort to rest, nap, and swim. Then, when we headed back to the park, we used a wheelchair for Gabe. Cai was very helpful and volunteered to push him around. It made her unhappy to see him in the wheelchair because she doesn’t like the idea of him being in one, but she liked pushing him and he liked learning how to wheel himself around (though we had some close calls with pedestrians and ramps).  The chair helped immensely. He was able to take it easy and stay out much longer. We repeated this pattern of going for a few hours, coming back to nap and swim, and going back out until late at night for the rest of the week with the other parks.

Gabe learns to drive

The highlight of our trip at Magic Kingdom was getting stuck – TWICE – and “evacuated” from Splash Mountain. What an adventure! Cai was particularly excited because we got to go through some of the behind-the-scenes tunnel system that she’d read about. The second time we got stuck, us and another family got everyone on the ride singing Disney songs! There is nothing quite like belting out “Part of Your World” and “Let it Go” with a bunch of strangers as Disney staff in adorable costumes “rescue” you from a water ride.  It was SO much fun!

Since he didn’t get the genie pass to let him go to the front of the line on rides because we didn’t stay at Give Kids the World, Disney customer service hooked us up with fast passes! He went on the Mission:Space at Epcot over and over again, loved the Tower of Terror at Hollywood Studios, and Expedition Everest at Animal Kingdom. He had to ride every rollercoaster in every park at least once. Each day, he bee-lined for the water rides and rode them as many times as possible, delighted in my [exaggerated for amusement] reluctance to get soaking wet. Our favorite was the Rip Roarin’ Rapids at Universal, but the Atlantis ride at Seaworld was pretty darn good with its surprise ending.

Safari Jedi Gabe

Gabe got to take the Sunrise Safari at Animal Kingdom and see all of the animals except the elephant (bummer – that’s his favorite) up close. He. Loved. It. We even got another look at Disney backstage (no pictures allowed). After the safari, we had a HUGE buffet breakfast that kept us all stuffed for the day. He liked the space ride at Epcot the most and made himself a cool double bladed lightsaber that he used to beat Sam and his single bladed lightsaber in unfair fights.

Our resort was a theme park in itself with pools, water slides, hot tubs, night time animal viewing with military grade nightvision goggles, drumming lessons, Disney movies… Gabe and Cai spent as much time as they could at the pool making friends and sliding down the water slide and I spent as much time in the hot tub as I could. We met some interesting people who were staying there, as well, but the most inspirational was a geneticist who talked to us about epigenetics and the stunning new advancements in genetic disease therapy! You guys, it’s like science fiction! They’re going to cure this thing one day in the not-too-distant future.

When I say that everyone went above and beyond to make sure he had an incredible trip, I mean it! The staff of Make-A-Wish, Maggiano’s, Disney, Universal, and Seaworld were all working so hard and being so kind to give him such a wonderful week. At Universal, he got a guide who brought him to the head of the line and characters all made sure that he got to meet them. I think his favorite part was climbing the alley wall. 

Now the not so great part: dealing with the unexpected aftermath. Since we got back, Gabe has begun to understand what ALD is in terms of how it could affect him personally. He saw the trip as a once-in-a-lifetime thing that he figured must have been given to him because he’ll never have the chance to do it again. He's afraid that it means that he won't live to grow up and have a family of his own. We explained that it’s not like that and talked about the power of positive thinking.  Plenty of children who have been granted wishes go on to lead long lives. It doesn’t mean he’s dying; it’s a break for kids who have to spend so much time dealing with a scary illness. It’s a chance to get away from all the stress. And it was! It was so amazing that none of us wanted to come home! If we could, we'd move right into one of those sweet little houses at Disney and stay there forever! But the weight of his own mortality is weighing heavy on him and it’s made him anxious and angry over the past few weeks.

The tipping point was when, shortly after our return home, we started (a little overzealously) making him wear a helmet to play any sports because of evidence that head injury can lead to cerebral demyelination in boys who previously had none. Gabe plays rough sports. Hockey and Soccer, especially, make him feel powerful and strong in a time when his life is uncertain and things are beyond his control. Gabe has always responded well to bluntness – we’re a very straight-forward bunch. He didn’t this time. He cried and fought with me – to my utter consternation – over helmets for soccer. He is afraid that other kids will laugh at him. “You wear a helmet or you don’t play” is what I finally said in frustration. And he agreed to do it. And I thought that was that and he was seeing sense. But, instead things just got worse and every loss of control or every moment of unfairness (being an inch too short to drive the go-karts when his sister and friends could) became a symbol of the injustice of the world and he raged against it. Then, I finally understood that he wasn’t mad about not driving the go-karts, he was mad about the unfairness of having ALD. I found this out when he finally yelled “It’s not fair! SHE (his sister) can drive them! SHE’S tall enough. SHE doesn’t have a stupid disease!” My heart broke for him. In the days that followed, we finally made emotional progress. 

I’m grateful for my son’s self-awareness. We sat him down and talked to him about the change we’ve seen come over him in the last few weeks. He told us about his fears of dying before he’s thirty and that he’s been really worried since I told him about needing to wear a helmet. He fought me on the helmet because he’s frightened. He’s already hit his head many times playing soccer and hockey and he was afraid he’d caused himself, by playing the rough sports he loves, to get lesions. We told him about all the times he’d bumped his head – even gotten concussions and stitches – as an adventurous small child. He climbed everything as soon as you turned your back and promptly fell off. And never, in eleven years of bumping his head while he played, had he developed lesions. His MRIs are still clear! It may have happened to others, but it never happened to him and his doctors think it probably never will. He needs to be careful, but he also needs to have hope and be positive. It was tough for me. I'm not used to this completely reasonable emotional response of anger. When Cutler had cancer - once, twice, three times - he was frightened but hopeful and optimistic. He became more spiritual, not angry. I understand Gabe's feelings, but learning to help him through them is new for us. Gabe thinks it would help him to hear stories about men with ALD and AMN who grew up and are doing well. I am thankful for my ALD family for sending stories of their fathers – some of them middle aged and totally asymptomatic - to inspire him.

I never thought I’d understand some of the choices that other parents have made that picked what we call “quality of life” over every possible protection. How dare Dr. Raymond suggest to me that “quality of life” may be more important than making sure we take every precaution – even the slim chances like taking Lorenzo's Oil and following a very restrictive diet for a child who is technically clinically too old to see the benefits -  to give him the best chance to grow up?! I would get so frustrated when I heard that other parents made calls that I never thought I would and couldn't understand. But now I understand what they all meant by "quality of life" and what the neurologist meant when he told me that I must weigh the cost and benefits of life style and activity choices. We have to choose well for our children and not take unnecessary risks, but we have to find the balance. Living in fear and precaution is not living a life. 

Helen Keller said it best when she said "Security is mostly a superstition. It does not exist in nature, nor do the children of men as a whole experience it. Avoiding danger is no safer in the long run than outright exposure. Life is either a daring adventure or nothing at all." 

Each of us on this journey with ALD must make the best choices that we can for our children’s health and safety and sometimes those choices don’t make sense to others on the surface. Gabe will have to wear a helmet when he plays hockey (everyone else does, too) and I'd still like him to take extra precautions and wear one when he plays other sports, but I had known how demoralizing the argument about the helmet would have been coming right on the heels of his Make A Wish trip and how it would solidify the fears he’d begun to develop, I would have backed off. And maybe I would have made the same choice that other mothers have made (which I didn’t understand at the time) and not been so open with him about ALD from the beginning.

Gabe's story is a story of hope. I hope he can inspire other families who are fighting this terrible battle and newly received a diagnosis because that first year is terrifying and I can't imagine the desperation my family would still feel today if it hadn't been for finding a family of other ALD kids, parents, and grown ups. Gabe is doing great and I think that because the internet is so full of stories of boys who aren't doing great, it's important for others to see a boy like him who IS! I just hope that he sees and believes the inspiration in his own story. 

Why NOT me? The Bittersweet.

I was crying on the couch beside my husband with my computer in my lap when Gabe came into the room. He should have been asleep; it was an hour past his bed time, but he was procrastinating to try to stay up as long as he could.

"Why are you crying?" He asked.

I paused for a moment, not sure whether I should answer him honestly or if I should just tell him that I saw something 'moving'. After all, I'd cried at a Jason Mraz music video, to my ten year old son's consternation, just the other day. It would be nothing new to him if I said I was crying over a video. In the end, I chose to tell him the truth. You see, we had just been celebrating great news from Gabe's neurologist and the results of his first eye exam. Gabe's Bone Marrow Team nurse had called earlier in the day to tell us that Gabe's latest MRI was normal and that Dr. D was thinking that he would do another MRI in 3 to 4 months and then may be comfortable spacing the MRIs out to every 6 months. This is great news for Gabe! It means that the BMT doctor is starting to worry a little less about his brain and how rapidly the disease could be progressing.

I've mentioned in previous posts that, even though ALD is caused by a mutation on the same ABCD1 gene in all boys (though not all boys have the same mutation. In fact, Gabe and I have one that was new to the database), it has a few different phenotypes and, even between identical twins, the disease may progress radically differently. No one knows why this happens. There may be some modifying genes at play, but no one knows what those are yet. Because progression, especially in children, can happen suddenly and be rapid, Gabe's BMT team has been ordering MRIs about every three months. If they spot any lesions on the MRI, Gabe will get a bone marrow transplant immediately with his big sister as the donor.

Gabe seems to be closing in on the upper age range for developing childhood cerebral type, the worst form of ALD. He could still develop cerebral involvement as a teen or an adult, but adult-onset tends to be more slowly progressive. I don't think we will ever be able to stop worrying, but we can start to worry a little less as time goes by. And it appears that the BMT team agrees as they are almost ready to move from 4 MRIs a year to 2.

Gabe's first visit eye exam went very well, too. We'd been told after his neuro work-up that he had some slowing of his left optic nerve that was typical of ALD boys. The optometrist told us that he is a little far-sighted, but that she was reluctant to have him wear reading glasses yet unless he starts getting headaches. From her end, his eyes and his optic nerves look healthy. So, all in all, we got some VERY good news.

So, why was I crying on the couch?

Another mother in our ALD support group, I explained to my son, just got her son's MRI results back, too. They weren't as good as his. We were very lucky, I told him, or blessed, or both that we live so close to Duke and that he had been diagnosed so quickly. The other family, I told him, has two sons who are close to his age. They only just found out that their sons have ALD and by the time they found out, their MRIs already showed lesions. I was crying, I told him, for their family.

"What would have happened if I didn't go to the hospital when I did?" He asked.

"When you went to the hospital, you were having an adrenal crisis. Your body was shutting down. If you didn't go, you would have died. We were lucky that, even though they thought it was just the flu, they checked everything and found out that you have ALD."

"So, I was dying when you took me to the hospital?"

"In short, yes.There have been other boys... other mothers I've talked to, who lost their sons during an adrenal crisis and only found out afterward that they had ALD. We were very lucky."

Gabe looked taken aback at first, then seemed to mull that over for a minute. He hugged me. "That's why I have  to save other people when I grow up."

I was really touched by this and I understand and share the sentiment. The help my family has received from the medical community and the support from family and friends is a major motivator in my working in EMS. I want to give back. Lately, Gabe has started telling everyone that he wants to be a pilot and a Paramedic. Maybe even a flight medic.

Then, my sweet little blue eyed boy grinned and said the most little BOY thing possible before dashing off to bed. "Wait until I tell my friends at school tomorrow! 'You know that time I was in the hospital? I was dying!'"

It may be a macho thing for him to brag about his brush with death to other boys on the playground, but for so many other families, it's a heartbreaking, nightmare of a reality.

I never (well, almost never, anyway) ask "why me?!" One of the things I learned from Buddhism is to never ask why ME, but rather "why NOT me?" What makes me - my son, my family - so special? Nothing.

Nothing.

My step grandmother, Connie, used to tell me, when we spoke of someone who was suffering (or even just annoying) "There but for the grace of God, go I. " It can be very hard at times to be part of the ALD family support group. I am grateful for the other parents and for the space to share our experiences and support each other, but there are days when I am so afraid for Gabe and reading about another family's loss makes it almost unbearable. I shamefully admit that some days, I scroll rapidly past their posts because I just can't bring myself to read them. I'm too scared. There are more days, though, when their stories are a connecting thread. When E posts about her son's latest "clean" MRI, her family is a symbol of hope that one more boy is beating this horrible disease. When K posts about her struggles with the healthcare of her son or a rough, sleepless night, I am strengthened by her strength.  I celebrate their triumphs and I grieve for them when they have set backs and losses because there, but for the grace of God, go I. 

There is no separation between them and me, their sons and mine. So, it is hard to celebrate and be happy that my son is, so far, relatively okay when another family hears that their son is not. There's no special diet that we feed our kids that they didn't. There's no special healthcare or life-style choices that we chose to follow that gave us "an edge." We aren't more pious, more worthy, more earth-centered, or more altruistic. There's nothing that we did that they didn't do. It just is what it is. We are grateful to our bones that Gabe's MRIs are still clear, but we weep for the boys whose MRIs are not. For the boys who are diagnosed too late and the ones who progress so fast. I pray with all of my being that my son's health holds, for newborn screening, and for a cure. Lord, bless our boys.

The Sea is So Wide

"Be kind to me Lord, for my boat is so small and the sea is so wide." - Irish prayer

This simple little prayer is something that can resonate with all of us. It calls to mind the feeling of despair and loneliness that washes over us when we are facing something that is just so much bigger than we are, that feels like it's so much more than we can handle. Our little boats could be so easily swallowed by the awesome power of our personal stormy sea: by Cancer, by ALD, by responsibilities that come with work or family or bills that pile up. But, it also calls to mind the feeling of awe that overcomes us when we are faced with our own minuteness, with the vastness of the universe, the enormity of life, the power of love and kindness, and the boundlessness of God. At once, it makes us think of despair and fear, of prayer and hope, but also of wonder and trust. I find this prayer running through my mind lately and it seems to be quite appropriate.

It's the middle of November and any of you who frequent Facebook are probably well aware of the "Month of Thankfulness" posts that people are posting every day. This is a little hard for me - not because I'm struggling to find things to say that I'm thankful for, but because there's just so much that I'm thankful for that it's hard to decide what to say that doesn't make me look vain. I'd look like a boob if everyday I posted about how glorious I think my life is. Smug is not a pretty color on anyone. I'm not smug, though, I'm just awestruck. My boat is so small and the sea is so wide - and stormy, and the waves are high and fast - but the Lord has been so kind to us and the stormy sea is so beautiful.

Cutler's cancer appears to be gone. Yes, I wrote that right. In all the striving to be hopeful and have faith, to just Keep Going, I barely noticed the sense of fear and expectation of the worst that I had been wearing around my shoulders like a heavy, smelly old shawl. It wasn't until it had been lifted away by the doctor's stunning news that I realized I had been carrying it around most of the time. We knew that his chemo appeared to be working because they began to be able to see brain features through the tumor tissue on MRIs. However, his seizures were still happening frequently and there have been some communication issues with his team that made things happen like him missing chemo doses every month. We didn't feel like we really knew what was going on with his tumor and his treatment plan, which is a terrible feeling. Knowledge really is power - it grants a feeling of stability, expectations, and tracked goals. A lack of understanding creates a feeling of powerlessness and raises fear.

So, because we didn't really know what was going on with him to begin with, and because this not-knowing created a glaze of bleakness, the announcement that his latest MRI is clear came as a total surprise. I cried, of course. Cutler told the children each separately as they came home from school. Cai screamed with glee and hugged him. Gabe, like me, cried and clung to him. Cutler's doctor (a wonderful, kind woman who we trust very much) plans to keep him on chemo for a while to mop up any cancer cells that may be remaining and are invisible to the MRI. She has a plan to get his seizures under control and will be adding some medications to help with memory and joint pain. To Cutler this meant that, seizures be damned, he was going to do everything in his power to get back to work.

Unable to drive and having multiple seizures a day, tired and sick from chemo, Cutler hasn't been able to
go to work. It's been driving him crazy being stuck at home. He loves his job and he loves interacting with people, so as soon as he heard that the tumor was gone and the doctor thinks they can get the seizures managed (though he'll always be a seizure risk), he started keeping a seizure diary for his neuro-oncologist and called his old boss. He was thrilled when they said that they would welcome him back. Now he's in the process of returning to work and eliminating the seizures as much as possible.

Gabe got some personal good news of his own this month: Make A Wish will be granting him one wish! Several of our friends and family members have expressed concern with this announcement that it might mean that Gabe has taken a turn for the worse. I assure you, this isn't the case. Gabe is still doing well. Make A Wish is a wonderful organization that grants wishes to children with life threatening illnesses and they spoke with his doctors and determined that he qualifies for a wish. Gabriel has been complaining of back and leg pain for a few months, and we have a neurology appointment in January to talk about nerves and spinal cord again, but his MRIs have remained blessedly clear. His school has been very helpful with maintaining his medication dosages during school hours and increasing them when he gets sick or injured on the playground.

Cutler and I discussed whether or not we should talk to Make a Wish about Gabe because he IS doing quite well compared to many boys who have ALD. But, the truth is that we have no way of knowing how long he will continue on this path of wellness: it could be forever or it could be months. Because there is no standard of pathology and no way of predicting his phenotype, we decided that the best thing to do is to let Gabe experience as much of life as he can while he's healthy and able to fully enjoy everything. Now is the time to live your dreams - not tomorrow, not when things get dire. Now. All we have is the present moment; don't put off living until later. You know, this really isn't a bad way to approach life in general for all of us, not just a good way to approach it for people who have life threatening condition. Life itself is a life-threatening condition.

Gabe received his wishing package in the mail and has been busy thinking up wishes in the categories that they gave (if I could do anything, be anything, go anywhere...). Gabe's ultimate wish is to travel the world and see other places and cultures. He wants to be a pilot so that he can fly himself around the globe. He would like to go to Venice, Rome, on Safari in Africa, meet and be blessed by Pope Francis... When we walked into his room to get some ideas of who Gabe is and what he likes to tell our Make a Wish contact during our phone interview, we saw three National Geographic magazines open on his dresser. Unfortunately, Make A Wish is a program with the limitations of most non-profits today. It's not realistic for them to send him on a world tour and the waiting list for wishes outside of the continental US is a minimum of three years. The wait time for wishes inside the continental US is 6 to 18 months. We don't know if we have three years. So, Gabe has an idea: maybe he can take a pretend world tour. Disney has the Animal Kingdom Lodge that can make him feel like he's on a safari (complete with zebras and giraffes outside your window), they have snorkeling in the Typhoon Lagoon.... If we can't bring him out to the world, maybe we can bring the world to him here in America.

Soon, we'll hear from a team of volunteers who will talk to Gabe about his biggest wishes and work with creative license to make one of them come true. Until then, we have some documents to gather and Gabe gets to have fun coming up with wishes and thinking about what he wants most in the world.

We're still taking it one day at a time and finding happiness together in the little things. I love my job with EMS and I love coming home to my family at the end of the day. Every day is better than the last. Our little boat gets tossed on the waves sometimes, but it sure is an amazing ride. And it sure is an adventure. And the Lord sure is kind.

A New School Year: Training Your Teacher Allies

The start of a new school year is full of excitement, anticipation, and a little apprehension. It’s the start of a new stage, a mile-marker, leveling up in the game of childhood. Buying the endless array of school supplies is a little painful to the wallet, but who can resist the rows of colorful pencils, the potential of packs of unopened paper, or the childlike thrill of picking out the notebook or folder that best represents who you are to your classmates. Battling the raging hordes of consumers is no fun, but helping the kids pick out their supplies is. I get nostalgic every time and start trying to think of excuses why I,too, might need three Superman notebooks and some smooth-writing mechanical pencils in four shades of glitter.

But for parents who have children with medical conditions and disabilities, the start of a school year means something else, too: educating the new teacher and staff about your child’s condition, daily needs, and their responsibilities. This can be a daunting task.

Last year was tough for Gabe. In retrospect, we know that he was struggling with symptoms of ALD for a long time and that they were becoming increasingly problematic as the school year progressed. We sought help and tried a variety of medications, but it wasn’t until his adrenal crisis and subsequent ALD diagnosis that we found out what was going on with him. Unfortunately, we had a negative experience with educating his teachers about ALD and Adrenal Insufficiency and ensuring their cooperation. It was the tail end of the year and Gabe had already been well and firmly established as “a problem.” When we explained his diagnosis, I don’t think that they were able to understand at first that problem behaviors (mood lability, difficulty concentrating, disorganization, ADHD behaviors that were unresponsive to medications…) were being caused by his condition and not by a personality flaw or failure of parenting. We clashed and argued several times between his diagnosis and the point at which they got it. Further complicating this was the fact that Cutler and I took for granted that the teachers would understand information that we passed on to them and would be able to draw accurate conclusions about his symptoms, medications, behavior, etc.

Eventually, 3 months after fighting for cooperation, the school understood how serious Gabe’s condition is. It took me practically blowing up in the office about Gabe being given his medication while on a school trip. The short of it is that they didn’t seem to take it seriously and then seemed surprised that I would refuse to allow him to go on the trip if he couldn’t take his medication. No one thought that was it was fair for him to miss the trip, but I was finally able to make them understand that this medication is extremely important – life or death important – and they made sure he would get his meds. After that, they called me every time Gabe got a bruise or fell on the playground. I’ll take overkill over nonchalance or medical negligence any day!

So, you can imagine the trepidation that I have with starting a new school year. I don’t want to go through that again!  I need for his teachers to be my allies, not to butt heads with them at every turn because they don’t understand his condition and needs. Gabe was originally assigned to a teacher I know and like, but the school decided to put all academically gifted students into one class. We found this out on Thursday evening, 3 days before the start of the new year. I was extremely anxious at first because I don’t know the new teacher at all.

I felt pretty bad about dropping a bomb on the new lady as soon as we walked through the door. Our introduction went something like this:

                    “Hi, we’re the Kornegays. This is our son, Gabriel. We’re very excited about the new school year and glad to meet you. Listen, we need to arrange a time to meet ASAP before school starts Monday. Gabriel has a degenerative genetic disease that causes a life-threatening condition called Adrenal Insufficiency. He needs to take daily medication at school and you will need to help him. He also has to have an emergency shot if he gets sick or hurt and we really need to train you on administration by the start of school. I’m an EMT and, unfortunately, I’m working this weekend so I can’t meet you until after 6pm. When can we talk?”

Mrs. M seemed, understandably,a little taken aback. I wasn’t sure if she was paying attention and wasn’t sure how much info to give her right off the bat. I’m sure I overwhelmed her, and she probably thought I was crazy, but it was necessary to arrange a meeting right away. What if he breaks his wrist the first day of school by jumping off the swing? She'll have to give the shot and call EMS. Because she couldn’t meet after 4pm and I couldn’t meet before 6:30pm (even later if late calls came in – which they did), we agreed to a conference Monday morning 45 minutes before school starts. The school nurse was, thankfully, on hand again and agreed to join us to talk about injection training and an IEP plan. The nurse had received her packet from Adrenal Insufficiency United! I encourage all parents of AI students to get a packet for their school. Order here:    Thanks, Jennifer Knapp of AI United !!

I am a list-maker. I write lists of every dang thing. It organizes my mind and determines my approach, helps me make sure I’m not forgetting anything… So, first I made a list of what lists I needed to make for the teacher! I decided against a food restrictions list. Gabe is educated enough about his diet and I can just tell her “low fat, no peanuts, no fried food, no grease, no junk” and that should suffice. Besides, we plan to pack his lunch. I decided that she needed a step-by-step list of instructions on the indications and administration of Solu-Cortef, his emergency med, a transport instruction and demographics sheet to give EMS if she has to call, and a list of daily medication instructions. NC Kid Base has an EXCELLENT form for children who are at more advanced stages of the disease. You can find that sheethere:

The sheet linked above has everything from basic info to special technologies and an anatomical figure to shade for diminished sensations, paralysis, and ports. The Transport/Demographics form that I created is much more simple and is suitable for children who, like Gabe, are less severely affected by ALD. It’s my opinion that this would save me, as a new EMT, time on-scene and I could probably transport faster if I have all the info I need already gathered for me (like when we respond to patients in healthcare facilities)

I found a great training video on administration of Solu-Cortef that I encourage everyone taking care of a child with AI to watch, whether they are a guardian, a teacher, an in-home health provider, or a babysitter.

I created a step-by-step instruction list based on this video. There is a step missing that appears in our IM injection protocols. This goes after inserting the needle and prior to depressing the plunger. It is to aspirate for blood. One would pull back a little on the plunger to see if blood enters the syringe. If you draw up blood, you’re in a blood vessel. Withdraw the needle and reinsert into muscle. The video leaves this step out. I talked to my paramedic training partner about it and it may be that this step is just confusing to a lay-person and appears to be unnecessary by CDC standards. So, if you’re not comfortable doing this you can probably skip it. Just be sure that you’ve inserted all the way into the muscle.

Lastly, I created a simple list of instructions for daily school medication administration and blood glucose testing. ALD parents, feel free to borrow any of these forms and modify them for your own use. 

Pencil cases make excellent emergency kit containers!  We picked up a couple of bright yellow-green soft box cases and turned them into kits. Inside is everything that the teacher would need to administer the dose (Solu-Cortef, syringe, gloves, 2x2 gauze, alcohol wipes, and bandaids - I went with Superman bandaids to remind Gabe that I love him and he's my strong superhero), a copy of the administration indications and instructions, and a copy of the EMS sheet.

By all appearance, the new teacher is eager to learn about what to do for Gabe, especially in an emergency. I’ve been exchanging emails with Mrs. M to educate her as simply and straightforwardly as I can about the disease and adrenal insufficiency and to provide her with the forms before the meeting. I’ll bring in hard copies for her to keep. This way, she will have time to formulate questions and we can make the meeting briefer so that she can start her first day with her new students on time. I appreciate that she is taking the time to meet with us and her response.

I feel prepared and positive about the new start! Good luck to all the returning students. I wish you a happy new school year full of fun and learning. And to you parents out there: I wish you a stress-free start, patience, and some quiet moments of peace.  

It's All in the Family (Except When it's Not)

Swimming, baseball, ice cream, fireworks, hot days and cold tea, visits with friends: these are some of the beautiful things about summer. Our busy summer has been filled with more than the usual amount of goodness; the support of family and friends and good news from so many sources. Our family was blessed to welcome the birth of another nephew, Logan Alexander Rogers, born to my sister Katie and her husband Bryan on May 31 (just 2 days after my birthday, which means that I can gift my birthday to him and I never have to age again…right?). Logan has a handsome, five year old big brother named Caden who is ALD negative. My mother, sisters, and new nephew will be DNA tested soon. We especially pray that the new baby boy is ALD negative.

Summer is my favorite time of year and we've been quite busy. I accepted a full time position as an EMT, a career that I am over-joyed to be in. Cutler and the kids participated in a very helpful family and friends CPR class. Everyone should know CPR! We took a day trip to the beach where Cai was the first to spot FOUR baby sea turtles.  Gabe even got to have a pool party birthday do-over and camp out on the Duham Bulls baseball field with the Boy Scouts!

After Cutler's first MRI since his brain cancer diagnosis in May, his neurologist said that the tumor doesn't appear to be growing. It hasn’t shrunk, either, but it’s still early in his treatment, so that is to be expected. He’s still having seizures, but that also is to be expected. He's in a catch-22 with those: tumor growth causes them, tumor death causes them, and having a tumor hang out in your brain causes them. All in all, his news is good news! We've had some trouble with getting his chemo to him on-time without him missing doses. Since he administers it himself, he has to reorder it through his doctor. For two months in a row, there have been communication issues between the pharmacy, the doctor's office, and the shipping pharmaceutical company, so his dose has been late. Last month, he missed a week but this month he only missed a day. We hope that since it's early in treatment, it won't make a major difference.

Gabe’s endocrinologist, Dr. Hart-Unger, is leaving and his next appointment in August will be with a new doctor. I’m sad to see her go and I hope that the new endocrinologist is as wonderful, personable, and accessible as Dr. Hart-Unger has been. Her final act for Gabe was to start him on Fludrocortisone because his body has begun to salt-waste. This is something that is typical in Adrenal Insufficiency, but she said that it happened a little faster than she expected.

We have been learning about the challenges that come with the Addison’s Disease component of ALD in the summer time. Apparently, Gabe is more susceptible to the heat and dehydration, needs to increase his sodium, may need to stress dose on very hot days. Sports drinks are good for sodium, but bad in that they have too much potassium - too much K could lead to hyperkalemia. We’re learning, but we’re not ready yet to send Gabe off to camp or to be baby-sat for extended periods of time.  I think he’s a little disappointed that he has these kinds of restrictions, but I think he seems to understand. He's a smart boy and he's been proactive about his health lately. We’re trying to make it up to him by doing fun things together.

We met with Gabe’s geneticist and she explained the genetic factors of ALD, the importance of getting my relatives tested (starting with my mother and sisters, then biological aunts and cousins, etc). She told us that it is not yet known what modifying genes are at work in ALD and that this may explain why some boys are severely affected while others less so.  Gabe’s mutation is new to the database and it’s predicted to be severe based on a computer model and since this is a new mutation, the computer doesn't know if it's like replacing the eggs and oil in a cake recipe with mayo (which is oil and eggs and won't ruin the cake) or with asparagus. She had the same opinion as the bone marrow team about Lorenzo’s Oil and diet: that there is no dietary therapy for ALD, LO is not proven to be effective, and that Gabe needs to be on a low-fat, heart-healthy diet. 

It took quite some time to hear the results of our daughter, Cai’s, DNA test and HLA typing results, but the verdict is in: Not only does Cai NOT have the mutation for ALD, she is also Gabe’s bone marrow match! This is the best possible news! This means, for her, that she will never pass this terrible disease to her children and she will never have to worry about developing carrier symptoms or AMN (Adrenomyeloneuropathy, a more mild form of ALD that affects the spine, peripheral nerves, bladder, and bowel). For Gabe it means that if he does begin to develop cerebral involvement, he can have a bone marrow transplant quickly without having to search the donor database for a match. We feel so incredibly blessed and fortunate that Cai is Gabe’s match; we’ve heard from other parents of boys with ALD who are not so fortunate as to have a match for their sons and my heart goes out to them.

My own DNA test results came back very quickly. I had the test done just before the 4^th of July holiday, so I expected to have additional delays beyond the month that it usually takes to get results. I had them back in about two weeks.  I DO have the ALD mutation. This means that I passed the gene to Gabe via a damaged (mutated) X chromosome.  To be honest, I haven’t quite worked out how I feel about this. I guess there is an upside: I get mad street cred in the geek circle as a bonafide, certified mutant. Plus, shouldn’t my super powers be manifesting soon? Do I need to stick a fork in a light socket or something to activate them? Go skydiving? Turn 33? Gabe is pulling for me to turn out to be Mystique because that would make him Nightcrawler. 

I tend  to make light of things and laugh at them because laughter lessens the power of the monster (think: Bogarts), but I had other, darker, reactions, too. I didn’t so much move through Kubler-Ross’s stages of grief as I did experience them all at the same time for the first couple of days after my results.  My personal psychology is firmly rooted in both Buddhism and Catholicism (observation and non-attachment to what arises, gratefulness, silence, and prayer), so I tend to observe my emotions and try to understand them.  This is what  I observed arising in myself with my carrier status confirmation:

I have been having carrier symptoms without knowing that’s what they were for more than eight years. I’d always said that there had to be something linking these things together; one root cause that we hadn’t figured out yet. I’ve gone through numerous tests and the most likely culprit that they kept coming back to was an autoimmune disease but, though many of the symptoms fit, my MRIs looked good and my blood work kept coming back negative for autoimmune. When Gabe was diagnosed and I began to understand the symptoms that about half of all carriers have (AMN-like symptoms), I realized that ALD was the missing link and my symptoms made sense for a symptomatic carrier. It was the logical conclusion even before DNA confirmation. So, I was surprised that I felt any sense of surprise at all when my results came back confirming what I already knew. But I still thought “Really? Really? Darn it!”

With that came the guilt of having passed this on to my son. A lot of carrier mothers feel this way and I know that it’s not rational. It’s no one’s fault: it just is what it is. I didn’t know I was a carrier and I didn’t know that Gabriel had it for ten years.  I would never have consciously given my son a terrible genetic disease that could debilitate or kill him. Still, part of me feels like it’s my fault that he has to suffer.  I’m also dealing with a little bit of fear over what this can do to me – not just the potential loss of my son, but the physical and mental affects that being a carrier can have on me, personally. My nerve pain, numbness, ADHD, and bladder problems are just annoyances right now, but I don’t want them to become real problems one day. I see how difficult day-to-day is for my mom and I’m worried that, since her symptom sets looks a lot like carrier-AMN, I could be headed down that same physical path. I am in a career that I absolutely love and I am afraid of the possibility of one day not being able to do my job.  I know that fear is not something to cling to; you can’t live life worrying about something that may never happen. The best thing for me to do is to acknowledge my fear when it arises and let it go, doing what I can, and what’s reasonable, to stay fit and healthy.

This will come as no surprise to anyone who knows me: I have something of a white knight complex. I’d love to eradicate suffering (yeah, yeah… I know. Samsara is Nirvana, grit makes the pearl, our crosses to bear, and all that). Since I can’t cure Gabe, and maybe even as some kind of personal purging of sins (real or perceived), I want to save the world and make sure that Gabe and anyone else who has ALD, or is a carrier, gets the treatment that they need. In the big picture, this means that I want to get newborn screening for ALD and EMS protocols for adrenal insufficiency instituted in my state. In the smaller picture, I want to get all of my relatives DNA tested. The latter seems like it may be a bigger task than the former.

Not everyone I talked to about DNA testing immediately understood the importance of screening and not everyone has the means to do it right now (healthcare costs are out of reach for many people today!). Enter anger. I am off-and-on angry when I run up against a roadblock to healthcare, since access to healthcare is my personal crusade, be that the reluctance to get tested/treated or other barriers (lack of insurance, doctors with big egos who don’t want to question their potential misdiagnosis, etc). By and large, most people I’ve talked to are open to the idea of being tested, but I find myself getting angry at the few who are reluctant to find out if they or their children have the mutation because it’s needlessly reckless. I understand that it’s a coping mechanism, but it’s frustrating when everyone isn’t rushing to get tested. Early detection equals a better chance for survival and treatment. Or, in cases of misdiagnosis, proper treatment.

So, what have we got here? We have somewhat irrational anger and guilt together with fear all driving the white knight desire to save everyone from ALD: A nice boiling pot. Then someone made a really hateful comment: they said that a family member didn't need to get tested because me and my husband's "bad blood" had nothing to do with them (what kind of person even says that?!). At the phrase “bad blood,” I flew into an absolute rage for about an hour. Now my version of rage and yours might be two different things.  It’s not like I scream (often) or throw things, but I do vent and do what I can to take corrective measures (like sending strongly worded emails). But seriously? I really wanted to punch that someone in the face.  After my hour or so of rage was up and I got myself under control, I sat in prayer and meditation with the family. Better late than never. Let me tell you, this family time is a great practice! We start with everyone taking turns saying offering up gratitude and general prayers, then we move into chanting and meditation. My husband, Cutler, prefers to use the singing bowl and Buddhist chants. I go with praying the rosary aloud.  It sounds quite beautiful once you get everyone chanting/ praying together. Afterward, I felt a million times better and, once calm, I understood that the nasty comments that the other person had made were coming from a place of their own fear, ego, and power issues and that my response of anger was due to mine.

But the main thing, the real take-away is this: that was just one instance of someone being hateful and it was far, far outweighed by the scores of friends, family, even strangers who have been kind and supportive. Once in a while, people can be destructive, mean, divisive, or worse. But these people are small in numbers. They are overwhelmed by the multitudes of people who are constructive, kind, compassionate, uniting, uplifting, and helpful. We see this every day enacted and reenacted in the world. Our family has been blessed again and again by the helpers of the world. They deserve their own blog entry instead of just a few paragraphs at the end of one, so I won’t go into detail here. For now, I offer a heartfelt thank you to everyone who has kept us in your prayers, supported us, worked to make fundraisers happen, and who have offered us their love both near and from afar. Thank you!

Starbugs

"If there was never any darkness, we would never see the fireflies."
These beautiful words grace the cover of a card sent to Cutler and Gabe by Cutler's aunt Shelly. They hold special meaning for the two of them and they so perfectly capture the lesson that we have learned and continue to learn anew. Some people call them lighting bugs, some prefer fireflies. Our little girl used to call them "starbugs" and I always thought that this was a particularly delightful moniker because it reminds us of the innocent awe that we had as children, when it seemed to us as though the magical insects brought to earth a tiny peice of celestial light. So many of our friends and family have lit up the darkness for us in these past days with the bright twinkling of their love and support. It has been a dazzling and humbling thing to be a part of, much like the awe of watching fireflies dance gracefully through the night. The light of our loved ones has been nothing short of celestial. They have been our starbugs, for sure.

If I thought I was busy before May 1, I have since learned that I had a lot more down time than I used to believe; down time that has now been taken up with filing paperwork, chasing down medications, talking to billing departments and hospital social workers and and filing more paperwork. Not to mention helping Cai with her jewelry orders (www.moonribbons.com). Life is a whirlwind of activity and I barely have time to worry about anything but completing the next step. I try to focus on the things that I CAN do. I can't control what happens inside Cutler's brain and I can't control what happens in Gabe's. I can't control what their diseases do to either of them. What I can control is having the paperwork needed for Cutler's discounted Zofran prescription completed and sent in, I can make sure that they get to their doctors appointments, I can sell tickets to the Carolina Mudcats Game our friend, Christy, has organized, I can make sure Cai's orders get shipped....

These things keep me very busy, but they also keep me sane. The give me steps to focus on. They break the war down into small battles that, with preserverance and strategy, can be won. And what else is there to do besides pray and do whatever has to be done? One day last week I felt very overwhelmed by it all, there was just so much to do and I still have to be a normal mom, still have to work full time... I'm trying to relinquish responsibility where appropriate to others who offer to help, but that's not easy. I feel like if I'm not doing most of the work, I'm being lazy or unhelpful or taking advantage of others' kindness. I have to remind myself that people WANT to help! The night is full of starbugs, but I have to let them shine!

Speaking of being busy, Cutler isn't able to tolerate a lot of activity; he has frequent seizures and the chemotherapy makes him feel like he has the flu. He likes warm sunny days because he can get outside and toss the ball with Gabe or relax in the community pool with the children. He's often too sick to eat more than one meal a day. But he's in good spirits! That counts for a lot!

The mystery of Gabe's unresponsive ACTH levels may have been solved! It turns out that the pills he has to take hurt his throat to swallow, so Gabe has been spitting them out when we're not looking! We talked to the endocrinologist today and she thought that explained an aweful lot! They'd been practically drowning him in steroids and saw no results! We're going to be switching to a liquid form of hydrocortisone, which is not only much easier to swallow, but a lot harder to surreptitiously spit out. We have to get the medication directly from the hospital pharmacy because, his doctor explained, some versions of liquid hydrocortisone are untrustworthy. We're going down to his original dose of 5mg three times a day in the hopes that, if it's actually getting into him, he won't need such high steroid doses. He's still on the itty bitty arc on the growth chart, but he's gaining a little weight, finally!

Cai's final round of bloodwork has been sent off to John Hopkins and we should know in a month for sure whether she is a carrier and whether she is Gabe's bone marrow match. The first round of lower-level testing looked good, but now she will have DNA testing and high-resolution HLA typing.

One thing that has been remarkably helpful was joining an ALD support group. When I started this blog, I must admit, I felt pretty alone. This diagnosis is very frightening and no one, not even many doctors, seems to know what it is. When my sister told her pediatrician that she needed to have her son tested, the pediatrician had to google it (blessedly, my nephew does not have ALD). When I spoke to my doctor, she had never heard of it, either. I've mentioned elsewhere on this blog that internet searches can yeild bleak results. So, imagine how heartening it was to be invited to a group where not only are there other parents who understand exactly what we are going through, but some of whom have boys who are asymptomatic or have mild symptoms! If that's not hope, I don't know what is!

Between old friends and new, family and even strangers, we feel so uplifted, hopeful, and loved. Whether they're coming over to dance with me, hosting a fundraiser, donating to our cause, offering advice on mixing crushed pills with applesauce, selling tickets, working on Cai's site, saying a prayer, or just reaching out to say "you're not alone," they have all been our starbugs: our lights in the darkness, the beauty and delight in all of this. Thank you. I could never, ever say it enough. A million times, thank you.